Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin deficiency in Central Eastern Europe.

The Leonardo da Vinci project "Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin Deficiency in Central Eastern Europe" belongs to a sub-programme of the European Commission's Lifelong Learning Programme. It started in November 2011 and is conducted in cooperation with eight European partners. The project's main goal is to support development of a Central-Eastern European Network (CEE) for alpha-1-antitrypsin Deficiency (AATD) early diagnostics and treatment. Alpha-1-antitrypsin (AAT) is one of the major serine protease inhibitors in the human circulation, and is an acute phase protein produced predominantly by hepatocytes. Severe inherited AATD deficiency occurs in about 1 in 2.500 individuals; most commonly in those of European ancestry. AATD considerably increases the risk of liver disorder in infants, children and adults, while respiratory complications are observed mainly in adults. The average concentration of AAT in plasma in healthy individuals is 1.3 mg/ml. The concentration of AAT during acute phase processes rises 3- to 4-fold above normal. Alpha1-Antitrypsin deficiency (AATD) is a disorder inherited in an autosomal co-dominant fashion. The mutant Z AAT protein differs from the normal M variant by a single amino acid substitution (Glu 342 Lys). Severe ZZ AAT deficiency was first recognized as a hereditary condition predisposing to disease on the basis of 90% lower plasma levels of the protein arising not from the lack of AAT synthesis, but from a defect in its secretion. Most Caucasians of North European descent are homozygous for the normal M variant of AAT, but some carry the Z allele, which is associated with an increased risk of early-onset emphysema and liver disease. The great advantage and main focus of the project is to create a long-lasting European network of cooperation between medical institutions involved in AATD medical care. The network is a response to the needs of CEE countries and at the same time it will help them to participate in the broader frame of the European network of medical centres specializing in AATD.